AIMC Topic: Mutation

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A protein dynamics-based deep learning model enhances predictions of fitness and epistasis.

Proceedings of the National Academy of Sciences of the United States of America
Deep learning has advanced our ability to assess the effects that individual mutations have on protein function; however, predicting the complex interplay between two or more mutations remains challenging. Here, we seek to address this challenge by b...

Predicting the Impact of Drug Resistance Mutations on Inhibitor Potency with Molecular Dynamics and Machine Learning.

The journal of physical chemistry. B
Many enzymes are vital drug targets in diseases such as cancer and pathogenic infections; however, mutations can drastically disrupt inhibitor binding to confer resistance. Resistance mutations primarily occur at the inhibitor binding site, but accom...

Predictive Modeling of DNA Damage Outcomes: Classification of Mutational Determinants Using Augmented Machine Learning Techniques.

Chemical research in toxicology
The mutational outcome of DNA damage as a direct result of constant chemical assault is governed by major factors, including the structure and nature of damage, replication, and repair machinery . The role of the size of the adduct, adduct-flanking b...

Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.

Molecular biology reports
BACKGROUND: Lysosomal storage diseases (LSDs) are a group of genetically heterogeneous inherited metabolic disorders that affect the functions of the lysosomes in different human tissues. Mucopolysaccharidosis IIIB (MPS IIIB), Sanfilippo B syndrome, ...

A machine learning-based predictive model for multilobar pulmonary consolidation induced by macrolide-resistant pneumonia caused by the 23S rRNA A2063G mutation.

Microbiology spectrum
This study aims to develop a machine learning (ML)-based predictive model for assessing the risk of multilobar pulmonary consolidation in children with macrolide-resistant pneumonia (MRMP) caused by the 23S rRNA A2063G mutation, a subgroup underrepr...

Support vector machine-based preoperative identification of IDH-Mutant low-grade gliomas in adult gliomas using clinical features.

BMC neurology
BACKGROUND: The preoperative identification of (isocitrate dehydrogenase) IDH-mutant low-grade gliomas (LGGs) is critical for personalized treatment planning. We aimed to develop a streamlined machine-learning model using key clinical features for ra...

Cancer detection via one-shot learning: integrating gene expression and genomic mutation analysis.

BMC bioinformatics
BACKGROUND: Cancer is a complex disease influenced by numerous concurrent genetic factors that result in diverse tumor microenvironments (TMEs) across different cancer types. Large-scale genomic projects, such as The Cancer Genome Atlas, have undersc...

Discovering periodontitis biomarkers and therapeutic targets through bioinformatics and ensemble learning analysis.

Scientific reports
Periodontitis, a prevalent inflammatory disease, leads to the progressive destruction of periodontal tissues and poses significant systemic health risks. Despite its widespread impact, the molecular mechanisms driving periodontitis remain poorly unde...

MLGCN-Driver: a cancer driver gene identification method based on multi-layer graph convolutional neural network.

BMC bioinformatics
BACKGROUND: The progression of cancer is driven by the accumulation of mutations in driver genes. Many researches promote to identify cancer driver genes. However, most of them ignore the high-order features in the network.

MEMO-Stab2: Multi-View Sequence-Based Deep Learning Framework for Predicting Mutation-Induced Stability Changes in Transmembrane Proteins.

Journal of chemical information and modeling
Accurately predicting the impact of point mutations on protein thermodynamic stability is essential for understanding structure-function relationships and guiding protein design. This challenge is particularly acute for transmembrane proteins (TMPs),...